ClinVar for Gene (Select 134492) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3202747	NM_145266.6(NUDCD2):c.436A>G (p.Thr146Ala)	CCNG1, NUDCD2 (T146A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202746	NM_145266.6(NUDCD2):c.184C>T (p.Leu62Phe)	LOC129995199, NUDCD2 (L62F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3202745	NM_145266.6(NUDCD2):c.148C>G (p.Arg50Gly)	LOC129995199, NUDCD2 (R50G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3202744	NM_145266.6(NUDCD2):c.139C>T (p.Leu47Phe)	LOC129995199, NUDCD2 (L47F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2562204	NM_145266.6(NUDCD2):c.31G>A (p.Val11Met)	LOC129995199, NUDCD2 (V11M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2539865	NM_145266.6(NUDCD2):c.467A>C (p.Glu156Ala)	CCNG1, NUDCD2 (E156A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512989	NM_145266.6(NUDCD2):c.149G>A (p.Arg50Gln)	LOC129995199, NUDCD2 (R50Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2407691	NM_145266.6(NUDCD2):c.252G>A (p.Met84Ile)	NUDCD2, CCNG1 (M84I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391267	NM_145266.6(NUDCD2):c.310C>G (p.Leu104Val)	CCNG1, NUDCD2 (L104V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380567	NM_145266.6(NUDCD2):c.29G>A (p.Gly10Glu)	LOC129995199, NUDCD2 (G10E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	ADAM19, ADRA1B +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1707452	Single allele	ADRA1B, ATP10B +110 more	Duplication	not specified	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 929325	GRCh37/hg19 5q34(chr5:161880996-162958461)x3	CCNG1, HMMR +2 more	Copy number gain	See cases	GUncertain significance
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 686758	GRCh37/hg19 5q34(chr5:162636748-163072415)x1	CCNG1, HMMR +2 more	Copy number loss	not provided	GUncertain significance
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 563120	GRCh37/hg19 5q34(chr5:161650030-164111161)x3	HMMR, MAT2B +2 more	Copy number gain	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	ADRA1B, ATP10B +107 more	Copy number loss	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +294 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	ADAM19, ADAMTS2 +863 more	Copy number gain	See cases	GPathogenic
Select item 58393	GRCh38/hg38 5q34(chr5:161909955-164086917)x1	CCNG1, GABRG2 +17 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +279 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 31